Arts syndrome
MIM.301835 Xq22-q24, Xq21.2-q24
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death.
Etiology
Loss-of-function mutations in PRPS1 (MIM.311850).
- Phosphoribosylpyrophosphate synthetase (PRPSs) (EC 2.7.6.1) catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for the de novo and salvage pathways of purine and pyrimidine biosynthesis.
- Three PRPSs genes have been identified: the widely expressed PRPS1 (MIM.311850) and PRPS2 (MIM.311860) genes, which map to chromosome Xq22-q24 and Xp22 respectively, and PRPS3 (PRPS1L1), which maps to chromosome 7 and appears to be transcribed only in testis.
Nota bene:
Activating mutations of PRPS1 in PRPS superactivty (PRPS-related gout) (MIM.300661)
Loss-of-function mutations of PRPS1 in
- X-linked recessive Charcot-Marie-Tooth disease type 5 (CMTX5) (MIM.311070)
- Arts disease
Members
| PRPS1 | PRPS2 | PRPS3 |
References
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet. 2007 Sep;81(3):507-18. PMID: #17701896#